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Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

BACKGROUND: Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma. Consanguinity in Pakistan and its neighboring countries...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Thromb J
Egile Nagusiak: Naz, Arshi, Biswas, Arijit, Khan, Tehmina Nafees, Goodeve, Anne, Ahmed, Nisar, Saqlain, Nazish, Ahmed, Shariq, Ujjan, Ikram Din, Shamsi, Tahir S, Oldenburg, Johannes
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2017
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5594472/
https://ncbi.nlm.nih.gov/pubmed/28912669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12959-017-0143-3
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